We describe two de novo intrachromosomal duplications of 1p. One case is a dir ins dup(1)(q21p21p31) in a newborn girl with low birth weight, growth retardation, and tetralogy of Fallot. The other is a 10-monthold girl with developmental delay, craniosynostosis, plagiocephaly, and an inv dup 1p34.1p
Partial duplication of Xp: A case report and review of previously reported cases
β Scribed by Wyandt, Herman E. ;Bugeau-Michaud, Lucille ;Skare, James C. ;Milunsky, Aubrey
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 425 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Male patients with Bloch-Sulzberger incontinentia pigmenti (IP type II) are rare and more severely affected than their female counterparts, with a significant occurrence of sex chromosome aneuploidy. This document introduces a new male IP type II patient and reviews 48 males reported with IP. Twenty
## Abstract A review of the 17 previously reported cases of duplication 3p and study of a new patient who has a duplication of the chromosome segment 3p21βpter show a remarkably consistent phenotype among these patients and suggest some generalizations about prognosis. The manifestations include lo
The acronym CHARGE refers to a syndrome of unknown cause. Here we report on 47 CHARGE patients evaluated for the frequency of major anomalies, namely coloboma (79%), heart malformation (85%), choanal atresia (57%), growth and/or mental retardation (100%), genital anomalies (34%), ear anomalies (91%)
Only three cases of W syndrome have been reported. These patients have a typical "pugilistic" face, incomplete oral cleft, absent upper incisors, mental retardation, spasticity, seizures, and acne scars. Two of them had additional skeletal anomalies. Here we report on three male patients with findin
## Abstract IMAGe syndrome is a rare condition, first reported by Vilain et al., in 1999, characterized by __i__ntrauterine growth restriction, __m__etaphyseal dysplasia, congenital __a__drenal hypoplasia, and __g__enital anomalies. Patients with this condition may present shortly after birth with